Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Leigh Syndrome due to Mitochondrial Complex III Deficiency
0.300 Biomarker disease CLINGEN A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy. 20159436 2010
Leigh Syndrome due to Mitochondrial Complex III Deficiency
0.300 Biomarker disease CLINGEN Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2. 19837698 2010
Leigh Syndrome due to Mitochondrial Complex III Deficiency
0.300 Biomarker disease CLINGEN Phenotypic consequences of a novel SCO2 gene mutation. 18924171 2008
Leigh Syndrome due to Mitochondrial Complex III Deficiency
0.300 Biomarker disease CLINGEN Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1. 16083427 2005
Leigh Syndrome due to Mitochondrial Complex III Deficiency
0.300 Biomarker disease CLINGEN Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase. 15229189 2004
Leigh Syndrome due to Mitochondrial Complex III Deficiency
0.300 Biomarker disease CLINGEN Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. 11673586 2001
Leigh Syndrome due to Mitochondrial Complex III Deficiency
0.300 Biomarker disease CLINGEN Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. 10545952 1999